Gene Therapy Clinical Study in Adult PKU (pheNIX)
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT03952156 |
Recruitment Status :
Recruiting
First Posted : May 16, 2019
Last Update Posted : March 2, 2020
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Condition or disease | Intervention/treatment | Phase |
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Phenylketonurias PAH Deficiency | Genetic: HMI-102 | Phase 1 Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 21 participants |
Allocation: | Randomized |
Intervention Model: | Sequential Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | A Phase 1/2 Open-Label, Randomized, Concurrently-Controlled, Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-102 in Adult PKU Subjects With PAH Deficiency |
Actual Study Start Date : | June 10, 2019 |
Estimated Primary Completion Date : | June 2021 |
Estimated Study Completion Date : | September 2021 |

Arm | Intervention/treatment |
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Experimental: Cohort 1
Dose Level 1 of HMI-102 delivered intravenously one time
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Genetic: HMI-102
HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene |
Experimental: Cohort 2
Dose Level 2 of HMI-102 delivered intravenously one time
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Genetic: HMI-102
HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene |
Experimental: Cohort 3
Dose Level 3 of HMI-102 delivered intravenously one time
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Genetic: HMI-102
HMI-102 is an AAVHSC15 vector containing a functional copy of the human PAH gene |
No Intervention: Delayed Treatment Control
Control subjects will generally have the same assessments as treated subjects. Control subjects will undergo pre-baseline procedures to confirm that they are eligible to receive treatment with HMI-102. Once eligible control subjects are dosed with HMI-102, they will initiate the same post-dose procedures as subjects who received HMI-102.
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- Incidence and severity of treatment-emergent adverse events (TEAE) and serious TEAEs [ Time Frame: Baseline to Week 52 ]Subjects with at least one TEAE or serious TEAE
- Incidence of sustained plasma Phe concentration of ≤360 μmol/L at 24 weeks post dose [ Time Frame: Baseline to Week 24 ]Subjects achieving a sustained plasma Phe concentration ≤360 μmol/L at 24 weeks post dose
- Plasma Phe Concentration [ Time Frame: Baseline to Week 52 ]Change in plasma Phe concentration at 24 weeks
- Incidence of achieving a plasma Phe concentration to ≤360 μmol/L [ Time Frame: Baseline to Week 52 ]Subjects achieving plasma Phe concentration ≤360 μmol/L at each time point during the study
- Phenylketonuria Quality of Life Questionnaire (PKU-QOL) [ Time Frame: Baseline to Week 52 ]Change in PKU-QOL

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Ages Eligible for Study: | 18 Years to 55 Years (Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Key Inclusion Criteria:
- Adults 18-55 years of age at the time of informed consent
- Diagnosis of classic phenylketonuria (PKU) due to PAH deficiency
- Two plasma Phe values with a concentration of ≥ 600 μmol/L drawn at least 48 hours apart during the screening period and at least one historical value ≥ 600 μmol/L in the preceding 12 month.
- Subject has the ability and willingness to maintain their baseline diet, whether Phe-restricted or unrestricted, after administration of HMI-102, unless otherwise directed
Key Exclusion Criteria:
- Subjects with PKU that is not due to PAH deficiency
- Presence of anti-AAVHSC15 neutralizing antibody
- ALT >1.5x ULN and AST >1.5x ULN
- Alkaline phosphatase >1.5x ULN.
- Total bilirubin >1.5x ULN, direct bilirubin ≥ 1.5x ULN
- Serum creatinine >1.5x ULN
- Hematology values outside of the normal range (hemoglobin <11.0 g/dL for males or <10.0 g/dL for females; white blood cells (WBC) <3,000/μL; absolute neutrophils <1500/μL; platelets <100,000/μL)
- Hemoglobin A1c >7.9% or fasting glucose >200 mg/dL
- Any clinically significant abnormal laboratory result at screening, in the opinion of the Investigator
- Contraindication to corticosteroid use or conditions that could worsen in the presence of corticosteroids, as assessed and determined by the investigator

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03952156
Contact: Steven Glyman, M.D. | 781-819-0967 | clinicaltrials@homologymedicines.com |
United States, Georgia | |
Emory University Hospital | Recruiting |
Atlanta, Georgia, United States, 30322 | |
Contact: Eleanor Botha 404-778-8517 egeller@emory.edu | |
United States, Illinois | |
Lurie Children's Hospital of Chicago | Recruiting |
Chicago, Illinois, United States, 60611 | |
Contact: Carolyn Ries 312-227-6004 CRies@luriechildrens.org | |
United States, Massachusetts | |
Boston Children's Hospital | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Contact: Eorna Maguire 617-919-1399 Eorna.Maguire@childrens.harvard.edu | |
United States, New York | |
Icahn School of Medicine at Mount Sinai | Recruiting |
New York, New York, United States, 10029 | |
Contact: Catherine Miller 212-659-1456 Catherine.miller@mssm.edu | |
United States, Ohio | |
Nationwide Children's Hospital | Recruiting |
Columbus, Ohio, United States, 43205 | |
Contact: Mallory Rowell 614-722-2512 Mallory.Rowell@nationwidechildrens.org | |
United States, Pennsylvania | |
Children's Hospital of Philadelphia | Recruiting |
Philadelphia, Pennsylvania, United States, 19104 | |
Contact: Bianca Ferreira 267-426-1368 FERREIRAB@EMAIL.CHOP.EDU | |
UPMC Children's Hospital of Pittsburgh | Recruiting |
Pittsburgh, Pennsylvania, United States, 15224 | |
Contact: Jennifer Baker 412-692-6378 Jennifer.Baker@chp.edu | |
United States, Utah | |
University of Utah | Recruiting |
Salt Lake City, Utah, United States, 84108 | |
Contact: Carrie Bailey 801-587-3605 Carrie.Bailey@hsc.utah.edu |
Responsible Party: | Homology Medicines, Inc |
ClinicalTrials.gov Identifier: | NCT03952156 |
Other Study ID Numbers: |
HMI-102-101 |
First Posted: | May 16, 2019 Key Record Dates |
Last Update Posted: | March 2, 2020 |
Last Verified: | January 2020 |
Studies a U.S. FDA-regulated Drug Product: | Yes |
Studies a U.S. FDA-regulated Device Product: | No |
PKU Phenylketonuria PAH Deficiency Hyperphenylalaninemia |
Phenylalanine Adeno Associated Virus AAVHSC15 |
Phenylketonurias Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases |
Nervous System Diseases Amino Acid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases |